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Full Text	Issue Date	Title	Author(s)
	2010	Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome.	Mazzeu, J.F.; Vianna-Morgante, A.M.; Krepischi, A.C.; Oudakker, A.R.; Rosenberg, C.; Szuhai, K.; McGill, J.; Maccraughan, J.; Bokhoven, J.H.L.M. van; Brunner, H.G.
	2010	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.	Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.C.; Oudakker, A.R.; Kjaergaard, S.; Vianna-Morgante, A.M.; Kleefstra, T.; Ruiter, E.M.; Jehee, F.S.; Ullmann, R.; Schwartz, C.E.; Stratton, M.; Raymond, F.L.; Veltman, J.A.; Vrijenhoek, T.; Pfundt, R.; Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Froyen, G.; Chelly, J.; Ropers, H.H.; Moraine, C.; Gecz, J.; Knijnenburg, J.; Kant, S.G.; Hamel, B.C.J.; Rosenberg, C.; Bokhoven, J.H.L.M. van; Brouwer, A.P.M. de
	2010	Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.	Iqbal, Z.; Cejudo-Martin, P.; Brouwer, A.; Zwaag, B. van der; Ruiz-Lozano, P.; Scimia, M.C.; Lindsey, J.D.; Weinreb, R.; Albrecht, B.; Megarbane, A.; Alanay, Y.; Ben-Neriah, Z.; Amenduni, M.; Artuso, R.; Veltman, J.A.; Beusekom, E. van; Oudakker, A.R.; Millan, J.L.; Hennekam, R.; Hamel, B.C.J.; Courtneidge, S.A.; Bokhoven, J.H.L.M. van
	2009	Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.	Lugtenberg, D.; Brouwer, A.P.M. de; Oudakker, A.R.; Pfundt, R.P.; Hamel, B.C.J.; Bokhoven, H. van; Bongers, E.M.H.F.
	2009	Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.	Lugtenberg, D.; Kleefstra, T.; Oudakker, A.R.; Nillesen, W.M.; Yntema, H.G.; Tzschach, A.; Raynaud, M.; Rating, D.; Journel, H.; Chelly, J.; Goizet, C.; Lacombe, D.; Pedespan, J.M.; Echenne, B.; Tariverdian, G.; O'Rourke, D.; King, M.D.; Green, A.; Kogelenberg, M. van; Esch, H. van; Gecz, J.; Hamel, B.C.J.; Bokhoven, H. van; Brouwer, A.P.M. de
	2007	Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia.	Dam, A.H.D.M.; Koscinski, I.; Kremer, J.A.M.; Moutou, C.; Jaeger, A.S.; Oudakker, A.R.; Tournaye, H.; Charlet, N.; Lagier-Tourenne, C.; Bokhoven, J.H.L.M. van; Viville, S.
	2007	Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.	Brouwer, A.P.M. de; Yntema, H.G.; Kleefstra, T.; Lugtenberg, D.; Oudakker, A.R.; Vries, B. de; Bokhoven, J.H.L.M. van; Esch, H. van; Frints, S.G.; Froyen, G.; Fryns, J.P.; Raynaud, M.; Moizard, M.P.; Ronce, N.; Bensalem, A.; Moraine, C.; Poirier, K.; Castelnau, L.; Saillour, Y.; Bienvenu, T.; Beldjord, C.; Portes, V. des; Chelly, J.; Turner, G.; Fullston, T.; Gecz, J.; Kuss, A.W.; Tzschach, A.; Jensen, L.R.; Lenzner, S.; Kalscheuer, V.M.M.; Ropers, H.H.; Hamel, B.C.J.
	2006	Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.	Lugtenberg, D.; Brouwer, A.P.M. de; Kleefstra, T.; Oudakker, A.R.; Frints, S.G.; Schrander-Stumpel, C.T.R.M.; Fryns, J.P.; Jensen, L.R.; Chelly, J.; Moraine, C.; Turner, G.; Veltman, J.A.; Hamel, B.C.J.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van; Yntema, H.G.
	2006	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.	Kleefstra, T.; Brunner, H.G.; Amiel, J.; Oudakker, A.R.; Nillesen, W.M.; Magee, A.; Genevieve, D.; Cormier-Daire, V.; Esch, H. van; Fryns, J.P.; Hamel, B.C.J.; Sistermans, E.A.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van
	2006	ZNF674: A New Kruppel-Associated Box-Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation	Lugtenberg, D.; Yntema, H.G.; Banning, M.J.G.; Oudakker, A.R.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.P.; Ropers, H.H.; Chelly, J.; Moraine, C.; Gecz, J.; Reeuwijk, J. van; Nabuurs, S.B.; Vries, L.B.A. de; Hamel, B.C.J.; Brouwer, A.P.M. de; Bokhoven, J.H.L.M. van
	2005	Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.	Kleefstra, T.; Smidt, M.; Banning, M.J.G.; Oudakker, A.R.; Esch, H. van; Brouwer, A.P.M. de; Nillesen, W.M.; Sistermans, E.A.; Hamel, B.C.J.; Bruijn, D.R.H. de; Fryns, J.P.; Yntema, H.G.; Brunner, H.G.; Vries, L.B.A. de; Bokhoven, J.H.L.M. van
	2004	Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.	Kleefstra, T.; Yntema, H.G.; Oudakker, A.R.; Banning, M.J.G.; Kalscheuer, V.M.M.; Chelly, J.; Moraine, C.; Ropers, H.H.; Fryns, J.P.; Janssen, I.M.; Sistermans, E.A.; Nillesen, W.M.; Vries, L.B.A. de; Hamel, B.C.J.; Bokhoven, J.H.L.M. van
	2004	MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.	Kleefstra, T.; Yntema, H.G.; Nillesen, W.M.; Oudakker, A.R.; Mullaart, R.A.; Geerdink, N.; Bokhoven, J.H.L.M. van; Vries, L.B.A. de; Sistermans, E.A.; Hamel, B.C.J.

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